PDF(Pubmed)
Abstract：
This case report presents a 3-year-old female patient initially diagnosed with polycythemia vera (PV) in 2001. The patient exhibited elevated red blood cell (RBC) counts, high hemoglobin (Hb) levels, hyperleukocytosis, and moderate thrombocytosis, with sporadic abdominal pain and significant splenomegaly. Despite various treatments, including phlebotomies, hydroxyurea, and alpha-interferon, the patient struggled to maintain optimal hematocrit levels and experienced persistent symptoms. Subsequent genomic analysis revealed a rare JAK2 G301R mutation alongside the canonical JAK2 V617F mutation, potentially contributing to disease severity. In 2023, the patient started Ropeginterferon alfa-2b, leading to improved hematological parameters and symptom relief. The case underscores the challenges in managing PV, particularly in young patients, and highlights the potential clinical significance of additional JAK2 mutations/variants and the potential benefits of Ropeginterferon alfa-2b in achieving better disease control.
摘要：
该病例报告介绍了一名3岁的女性患者，该患者于2001年最初被诊断为真性红细胞增多症（PV）。患者表现出红细胞（RBC）计数升高，高血红蛋白（Hb）水平，高白细胞增多症,和中度血小板增多症，伴有散发性腹痛和明显脾肿大。尽管有各种治疗方法,包括静脉切除术,羟基脲,和α-干扰素,患者努力维持最佳血细胞比容水平，并出现持续症状。随后的基因组分析显示了一个罕见的JAK2G301R突变以及典型的JAK2V617F突变，可能导致疾病的严重程度。2023年，患者开始使用Ropeg干扰素α-2b，导致改善血液学参数和症状缓解。此案突显了光伏管理方面的挑战，特别是在年轻患者中，并强调了其他JAK2突变/变异的潜在临床意义，以及Ropeg干扰素α-2b在实现更好的疾病控制方面的潜在益处。
